Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72552291
rs72552291
1.000 0.080 3 32159096 missense variant C/T snv 1.4E-04 1.1E-04
CUI: C2673193
Disease: Brugada Syndrome 2
Brugada Syndrome 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 2007 2009
dbSNP: rs72552292
rs72552292
1.000 0.080 3 32138608 missense variant G/A snv 1.7E-04 1.7E-04
CUI: C2673193
Disease: Brugada Syndrome 2
Brugada Syndrome 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2007 2009
dbSNP: rs72552293
rs72552293
0.925 0.120 3 32140231 missense variant A/G snv 2.5E-03 2.9E-03
CUI: C2673193
Disease: Brugada Syndrome 2
Brugada Syndrome 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2007 2009
dbSNP: rs72552294
rs72552294
1.000 0.080 3 32159074 missense variant C/T snv 4.8E-05 3.5E-05
CUI: C2673193
Disease: Brugada Syndrome 2
Brugada Syndrome 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2007 2009